Sugi Variant

Sugi Variant/RNF13

RNF13 — 299 ClinVar variants

All ClinVar germline RNF13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 137 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 17 Conflicting · 19 Benign · 7 Benign/Likely benign · 102 Likely benign · 146 Uncertain significance

Full RNF13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 137

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 13

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 90

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 34

The independent predictors disagree with each other — read with care.

All RNF13 variants

Pathogenic 3

  • p.Glu301Ter Single submitter developmental and epileptic encephalopathy, 73
  • p.Leu311Ser No assertion criteria developmental and epileptic encephalopathy, 73
  • p.Leu312Pro No assertion criteria developmental and epileptic encephalopathy, 73

Pathogenic/Likely pathogenic 1

Likely pathogenic 4

Conflicting classifications of pathogenicity 17

Benign 19

Benign/Likely benign 7

Likely benign 102

Uncertain significance 146